The parents of a little girl who wasn't putting on weight due to a rare genetic syndrome now want to raise awareness after her diagnosis.
Ella Cooper stopped breathing after she was born at Tameside Hospital on New Year's Day 2019.
Her mum Kay Garratt, 38, said she was then 'never very well' as a baby, with doctors first believing that she had a dairy allergy.
But when 'tiny' Ella, now two, started losing weight and catching infections her parents knew something else was wrong.
After working with doctors and pushing for answers, she was diagnosed with WiedemannSteiner syndrome at 22-months-old.
Parents Kay and Scott, from Guide Bridge in Ashton-under-Lyne, now want to help other parents and raise awareness of the condition.
"When Ella was born at Tameside Hospital she ended up on the neonatal unit for three days as she stopped breathing", mum Kay told the Manchester Evening News .
"Since then she has never been very well as a child.
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"At first, doctors at Tameside Hospital thought she had a cows protein allergy so they were going down that route.
"But she was dropping weight by the week. She was tiny."
Kay asked for Ella to be referred to the Manchester Royal Children's Hospital, where she said specialists have been 'brilliant'.
She was 'in and out of hospital' for first year of her life, spending seven weeks there over Christmas and her first birthday.
"When she was in there she went through every test possible", Kay added.
"Because she was so weak and her immune system was so low she was isolated in the hospital in her own room.
"She kept catching infections but all of the tests she had came back normal. They could not figure anything out."
Ella was sent home in January 2020 and referred to genetics specialists.
Doctors found that she wasn't allergic to dairy and just before her second birthday, she was diagnosed with WiedemannSteiner syndrome.
The genetic disorder can cause developmental delay, unusual facial features, short stature, and reduction in muscle tone.
It wasn't genetically identified until 2012.
Kay said the main symptom to look out for was Ella's difficulty with putting on weight. She also struggles with talking and walking.
"There's only about 1,000 diagnosed with it at the minute", she said.
"No-one had ever heard of it basically."
Ella is now under the care of a physiotherapist and specialist doctors.
Kay added: "It's taken 22 months to get an answer as to what is wrong but the doctors have been great.
"When she went into hospital she was 11 pounds and nine ounces. She is now 18 and and a half pounds so we're getting there slowly.
"Two weeks ago she was given a kaye walker by her physiotherapist. I took her outside with it and she just went straight off. She is trying so hard with it and doing so well.
"She is such a happy little girl, all she has done is smile.
"I just want to put awareness out there for people who don't know about this syndrome. If I can help just one person I'll be happy.
"It was horrendous for us not knowing."
Ella's parents have launched a fundraising page to raise money for The Wiedemann-Steiner Syndrome Foundation. You can donate here.
Read more here:
Tot whose weight loss baffled doctors diagnosed with condition 'no one knows' - Manchester Evening News
